摘要

PURPOSE:: There is limited information on long-term outcomes among children with Duarte galactosemia and controversy about treatment of this potentially benign condition. This study examined developmental disabilities and issues that required special education services within a population-based sample of children with Duarte galactosemia.
METHODS:: Children born between 1988 and 2001 who were diagnosed with Duarte galactosemia and resided in the five-county metropolitan Atlanta area at birth and from 3 to 10 years of age were linked to the (1) Metropolitan Atlanta Developmental Disabilities Surveillance Program, an ongoing, population-based surveillance system for selected developmental disabilities and (2) Special Education Database of Metropolitan Atlanta. Special education records were reviewed for children who linked. Clinical genetics records were reviewed to assess laboratory levels at the time of diagnosis and metabolic control during treatment.
RESULTS:: Of the 59 eligible children, none were found to have intellectual disability, cerebral palsy, hearing loss, vision impairment, or an autism spectrum disorder. However, five, 8.5% of 3 to 10 years or 15.2% of eligible 8 years, were identified as having received special education services, four of whom were confirmed with a speech or language disorder, or were receiving services for speech or language or both compared with 4.5% and 5.9% of children without Duarte galactosemia, respectively.
CONCLUSIONS:: Despite galactose restriction until 1 year, select developmental issues associated with special education, specifically involving speech and language, have been found among some children with Duarte galactosemia.

译文

目的:: 关于 Duarte 半乳糖血症儿童的长期结果的信息有限,关于这种潜在良性疾病的治疗存在争议。这项研究在一个基于人口的杜阿尔特半乳糖血症儿童样本中调查了发育性残疾和需要特殊教育服务的问题。
方法: 1988年至 2001 间出生的被诊断患有 Duarte 半乳糖血症的儿童,出生时居住在五个县的亚特兰大市区,年龄从 3 岁到 10 岁与 (1) 亚特兰大市发展残疾监控项目,一个针对特定发展残疾的持续的基于人群的监控系统和 (2)亚特兰大市特殊教育数据库。对有关联的儿童的特殊教育记录进行了审查。回顾临床遗传学记录以评估诊断时的实验室水平和治疗期间的代谢控制。
结果:: 在 59 名符合条件的儿童中,没有人被发现患有智力残疾、脑瘫病、听力损失、视力障碍或自闭症谱系障碍。然而,8.5% 的 3 至 10 年或 15.2% 的合格 8 年被确定为接受过特殊教育服务,其中 4 人被确认患有言语或语言障碍, 或者正在接受言语或语言服务,或者两者兼而有之,相比之下,没有 Duarte 半乳糖血症的儿童分别为 4.5% 和 5.9%。
结论: 尽管半乳糖限制直到 1 年,但在一些 Duarte 半乳糖血症儿童中发现了与特殊教育相关的特定发育问题,特别是涉及语言和语言的问题。

Galactosemia

内分泌 遗传代谢疾病 疾病
概述  :  

半乳糖血症是一种罕见的遗传代谢疾病,会影响个体正常代谢半乳糖的能力。半乳糖血症遵循常染色体隐性遗传方式,该方式使得负责半乳糖降解的酶缺乏。半乳糖血症以常染色体隐性方式遗传,这意味着孩子必须从每个父母那里遗传一个有缺陷的基因才能显示出这种疾病。杂合子是载体,因为它们继承一个正常基因和一个缺陷基因,携带者没有半乳糖血症的症状。诊断方法新生儿筛查(NBS)(如果可用)能够诊断大多数受影响的婴儿。如果婴儿一家有半乳糖血症的病史,医生可以在出生前通过从胎儿周围(羊膜腔穿刺术)或胎盘(绒毛膜绒毛取样或C

Galactosemia   英/ɡə'læktə'sɪmɪə/   美/ɡə,læktə'simiə/

释    义   n. [遗] 半乳糖血(症)

例    句   The classical form of galactosemia is characterized by vomiting, diarrhea, jaundice and failure to thrive within a few days after birth. 半乳糖血症的典型症状是婴儿出生几天后出现呕吐,腹泻,黄疸和营养不能被吸收。

请扫描右侧二维码,免费查看词汇专业知识背景